Canonical Allele Identifier: CA591377505

Gene: ABO

Linked Data

• dbSNP Id: rs1564303826
• gnomAD v2: 9-136131307-CG-C
• gnomAD v4: 9-133255920-CG-C
• MyVariant Identifiers: chr9:g.136131308del (hg19) ; chr9:g.133255921del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255921del , CM000671.2:g.133255921del	GRCh38
NC_000009.11:g.136131308del , CM000671.1:g.136131308del	GRCh37
NC_000009.10:g.135121129del	NCBI36
NG_006669.1:g.21747del
NG_006669.2:g.24295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.839del
ENST00000647353.1:n.54-4769del
ENST00000679909.1:c.28+19241del	ENSP00000506089.1:n.28+19241del
ENST00000453660.3:n.821del
ENST00000538324.2:c.807del	ENSP00000483018.1:p.Phe269LeufsTer19
ENST00000611156.4:c.807del	ENSP00000483265.1:p.Phe269LeufsTer19
NM_020469.2:c.810del	NP_065202.2:p.Phe270LeufsTer19
NM_020469.3:c.810del	NP_065202.2:p.Phe270LeufsTer19